Table 2.
Reported epilepsy and seizure phenotypes in 27 published patients with MEF2C haploinsufficiency and 16 subjects from this series
| Reference | Infantile spasms | Infant-onset myoclonic epilepsy | Childhood-onset epilepsy, intractable | Childhood-onset epilepsy, controlled | Febrile seizures | No epilepsyb |
|---|---|---|---|---|---|---|
| [28] | 1 | 0 | 0 | 0 | 0 | 0 |
| [4] | 1 | 2 | 0 | 1 | 0 | 3 |
| [3] | 0 | 1 | 0 | 0 | 1 | 0 |
| [7] | 1 | 4 | 0 | 0 | 1 | 0 |
| [8] | 0 | 0 | 0 | 0 | 0 | 1 |
| [6] | 1 | 1 | 1 | 1 | 0 | 0 |
| [5] | 1 | 1 | 0 | 0 | 0 | 0 |
| [1] | 0 | 0 | 0 | 1 | 0 | 0 |
| [2] | 0 | 1 | 0 | 0 | 0 | 0 |
| [38] | 0 | 0 | 0 | 1 | 0 | 0 |
| [39] | 0 | 0 | 0 | 1 | 1 | 0 |
| Current series | 4a | 4a | 4 | 0 | 2 | 6 |
| Total (%) | 9 (21) | 14 (33) | 5 (12) | 5 (12) | 5 (12) | 10 (23) |
a
Subjects LR11-307 and LR11-312 had both infantile spasms and infant-onset myoclonic epilepsy
b
Epilepsy is defined as two or greater unprovoked (i.e., afebrile) seizures